Preferred Label : Breath-holding spells;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : BHS;
Description : The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive
and stereotyped sequence of clinical events beginning with a provocation resulting
in crying or emotional upset that leads to a noiseless state of expiration accompanied
by color change and ultimately loss of consciousness and postural tone (Lombroso and
Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's
coloration (cyanotic or pallid) during these events. Most children experience the
cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional,
reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during
full expiration despite its misnomer. Autonomic dysregulation has been hypothesized
as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario
and Burleson, 1993; Dimario et al., 1998).;
Inheritance : Autosomal dominant;
Prefixed ID : 607578;
Origin ID : 607578;
UMLS CUI : C0476287;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
- HPO term(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
